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Page 1
Genomic Disorders in CKD across the Lifespan.
Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. Among authors: shang n. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
Characterizing variability of electronic health record-driven phenotype definitions.
Brandt PS, Kho A, Luo Y, Pacheco JA, Walunas TL, Hakonarson H, Hripcsak G, Liu C, Shang N, Weng C, Walton N, Carrell DS, Crane PK, Larson EB, Chute CG, Kullo IJ, Carroll R, Denny J, Ramirez A, Wei WQ, Pathak J, Wiley LK, Richesson R, Starren JB, Rasmussen LV. Brandt PS, et al. Among authors: shang n. J Am Med Inform Assoc. 2023 Feb 16;30(3):427-437. doi: 10.1093/jamia/ocac235. J Am Med Inform Assoc. 2023. PMID: 36474423 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); … See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: shang n. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Cronkite DJ, Sohn S, Murphy S, Gundelach JH, Gainer V, Castro VM, Liu C, Mentch F, Lingren T, Sundaresan AS, Eickelberg G, Willis V, Furmanchuk A, Patel R, Carrell DS, Deng Y, Walton N, Satterfield BA, Kullo IJ, Dikilitas O, Smith JC, Peterson JF, Shang N, Kiryluk K, Ni Y, Li Y, Nadkarni GN, Rosenthal EA, Walunas TL, Williams MS, Karlson EW, Linder JE, Luo Y, Weng C, Wei W. Pacheco JA, et al. Among authors: shang n. Sci Rep. 2023 Feb 3;13(1):1971. doi: 10.1038/s41598-023-27481-y. Sci Rep. 2023. PMID: 36737471 Free PMC article.
Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.
Joo YY, Pacheco JA, Thompson WK, Rasmussen-Torvik LJ, Rasmussen LV, Lin FTJ, Andrade M, Borthwick KM, Bottinger E, Cagan A, Carrell DS, Denny JC, Ellis SB, Gottesman O, Linneman JG, Pathak J, Peissig PL, Shang N, Tromp G, Veerappan A, Smith ME, Chisholm RL, Gawron AJ, Hayes MG, Kho AN. Joo YY, et al. Among authors: shang n. PLoS One. 2023 May 17;18(5):e0283553. doi: 10.1371/journal.pone.0283553. eCollection 2023. PLoS One. 2023. PMID: 37196047 Free PMC article.
Multi-Scalar Data Integration Links Glomerular Angiopoietin-Tie Signaling Pathway Activation With Progression of Diabetic Kidney Disease.
Liu J, Nair V, Zhao YY, Chang DY, Limonte C, Bansal N, Fermin D, Eichinger F, Tanner EC, Bellovich KA, Steigerwalt S, Bhat Z, Hawkins JJ, Subramanian L, Rosas SE, Sedor JR, Vasquez MA, Waikar SS, Bitzer M, Pennathur S, Brosius FC, De Boer I, Chen M, Kretzler M, Ju W; Kidney Precision Medicine Project and Michigan Translational Core C-PROBE Investigator Group; Kidney Precision Medicine Project and Michigan Translational Core C-PROBE Investigator Group. Liu J, et al. Diabetes. 2022 Dec 1;71(12):2664-2676. doi: 10.2337/db22-0169. Diabetes. 2022. PMID: 36331122 Free PMC article.
An atlas of healthy and injured cell states and niches in the human kidney.
Lake BB, Menon R, Winfree S, Hu Q, Melo Ferreira R, Kalhor K, Barwinska D, Otto EA, Ferkowicz M, Diep D, Plongthongkum N, Knoten A, Urata S, Mariani LH, Naik AS, Eddy S, Zhang B, Wu Y, Salamon D, Williams JC, Wang X, Balderrama KS, Hoover PJ, Murray E, Marshall JL, Noel T, Vijayan A, Hartman A, Chen F, Waikar SS, Rosas SE, Wilson FP, Palevsky PM, Kiryluk K, Sedor JR, Toto RD, Parikh CR, Kim EH, Satija R, Greka A, Macosko EZ, Kharchenko PV, Gaut JP, Hodgin JB; KPMP Consortium; Eadon MT, Dagher PC, El-Achkar TM, Zhang K, Kretzler M, Jain S. Lake BB, et al. Nature. 2023 Jul;619(7970):585-594. doi: 10.1038/s41586-023-05769-3. Epub 2023 Jul 19. Nature. 2023. PMID: 37468583 Free PMC article.
The chromatin landscape of healthy and injured cell types in the human kidney.
Gisch DL, Brennan M, Lake BB, Basta J, Keller MS, Melo Ferreira R, Akilesh S, Ghag R, Lu C, Cheng YH, Collins KS, Parikh SV, Rovin BH, Robbins L, Stout L, Conklin KY, Diep D, Zhang B, Knoten A, Barwinska D, Asghari M, Sabo AR, Ferkowicz MJ, Sutton TA, Kelly KJ, De Boer IH, Rosas SE, Kiryluk K, Hodgin JB, Alakwaa F, Winfree S, Jefferson N, Türkmen A, Gaut JP, Gehlenborg N, Phillips CL, El-Achkar TM, Dagher PC, Hato T, Zhang K, Himmelfarb J, Kretzler M, Mollah S; Kidney Precision Medicine Project (KPMP); Jain S, Rauchman M, Eadon MT. Gisch DL, et al. Nat Commun. 2024 Jan 10;15(1):433. doi: 10.1038/s41467-023-44467-6. Nat Commun. 2024. PMID: 38199997 Free PMC article.
369 results